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Am J Med Genet A. 2008 Apr 15;146A(8):1063-6. doi: 10.1002/ajmg.a.31903.

Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.

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  • 1The Morris Kahn Laboratory of Human Genetics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of Negev, Beer-Sheva, Israel.
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